GM23653
LCL from B-Lymphocyte
Description:
CITRULLINEMIA, CLASSIC
ARGININOSUCCINATE SYNTHETASE 1; ASS1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
Hispanic/Latino
|
|
Ethnicity
|
Hispanic/Latino
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
ASS1 |
| Chromosomal Location |
9q34 |
| Allelic Variant 1 |
603470.10; CITRULLINEMIA |
| Identified Mutation |
ARG304TRP |
| |
| Gene |
ASS1 |
| Chromosomal Location |
9q34 |
| Allelic Variant 2 |
603470.10; CITRULLINEMIA |
| Identified Mutation |
ARG304TRP |
| Remarks |
Clinically affected; diagnosed at newborn screening; symptom onset at age 9; past hyperammonemic events; donor subject is homozygous for a C>T transition at nucleotide 910 in exon 13 of the ASS1 gene resulting in the substitution of tryptophan for arginine at codon 304 [Arg304Trp (R304W)];10 fold elevation above mean of citrulline in plasma; normal neurological evaluation at age 4; treatments include: citrulline arginine supplement, sodium phenylbutyrate, and protein restriction. |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|